Article
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.
The Journal of investigative dermatology - 1 May 1998
Sijbers A M, van Voorst Vader P C, Snoek J W, Raams A, Jaspers N G, Kleijer W J
Abstract excerpt
The second Caucasian xeroderma pigmentosum patient (XP42RO) belonging to complementation group F (XP-F) is described. Mild ocular photophobia was present from childhood, and acute skin reactions occurred upon exposure to sunlight. Basal and squamous cell carcinomas developed after his twenty-seventh year. In his late forties progressive neurologic symptoms emerged, which included intellectual decline, mild chorea...
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